WO2004072305A3 - Atlastine - Google Patents
Atlastine Download PDFInfo
- Publication number
- WO2004072305A3 WO2004072305A3 PCT/US2004/004013 US2004004013W WO2004072305A3 WO 2004072305 A3 WO2004072305 A3 WO 2004072305A3 US 2004004013 W US2004004013 W US 2004004013W WO 2004072305 A3 WO2004072305 A3 WO 2004072305A3
- Authority
- WO
- WIPO (PCT)
- Prior art keywords
- gene
- atlastin
- present
- mutations
- named
- Prior art date
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
- C12N9/14—Hydrolases (3)
- C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P21/00—Drugs for disorders of the muscular or neuromuscular system
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/08—Antiepileptics; Anticonvulsants
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
- C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
- C07K14/4722—G-proteins
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
- G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
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- Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
- Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
- Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
- Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
- Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation
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- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Engineering & Computer Science (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- General Health & Medical Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Medicinal Chemistry (AREA)
- Biochemistry (AREA)
- Wood Science & Technology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biomedical Technology (AREA)
- Biotechnology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Gastroenterology & Hepatology (AREA)
- Hematology (AREA)
- Urology & Nephrology (AREA)
- Toxicology (AREA)
- Pathology (AREA)
- General Engineering & Computer Science (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Physics & Mathematics (AREA)
- Veterinary Medicine (AREA)
- Public Health (AREA)
- Animal Behavior & Ethology (AREA)
- Cell Biology (AREA)
- Pharmacology & Pharmacy (AREA)
- General Chemical & Material Sciences (AREA)
- Neurology (AREA)
- Food Science & Technology (AREA)
- Neurosurgery (AREA)
- Physical Education & Sports Medicine (AREA)
Abstract
La présente invention concerne des méthodes et des compositions d'un nouveau gène et du peptide codé par le gène. Des mutations dans le gène, appelées atlastine, sont des facteurs de la maladie héréditaire, la paraplégie spastique, et d'autres troubles liés. Les méthodes et compositions de cette invention sont utilisées dans la recherche, le diagnostic et le traitement de ces maladies invalidantes.
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US10/364,748 | 2003-02-11 | ||
US10/364,748 US7582425B2 (en) | 2001-09-21 | 2003-02-11 | Atlastin |
Publications (2)
Publication Number | Publication Date |
---|---|
WO2004072305A2 WO2004072305A2 (fr) | 2004-08-26 |
WO2004072305A3 true WO2004072305A3 (fr) | 2004-10-21 |
Family
ID=32867979
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
PCT/US2004/004013 WO2004072305A2 (fr) | 2003-02-11 | 2004-02-11 | Atlastine |
Country Status (2)
Country | Link |
---|---|
US (2) | US7582425B2 (fr) |
WO (1) | WO2004072305A2 (fr) |
Families Citing this family (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US7582425B2 (en) * | 2001-09-21 | 2009-09-01 | The Regents Of The University Of Michigan | Atlastin |
JP5312314B2 (ja) * | 2006-03-30 | 2013-10-09 | デューク ユニヴァーシティー | 家族性痙性対麻痺の根底にある新規遺伝子の同定 |
Citations (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2003026566A2 (fr) * | 2001-09-21 | 2003-04-03 | The Regents Of The University Of Michigan | Atlastine |
Family Cites Families (45)
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US4657760A (en) | 1979-03-20 | 1987-04-14 | Ortho Pharmaceutical Corporation | Methods and compositions using monoclonal antibody to human T cells |
DE2938534A1 (de) | 1979-09-24 | 1981-04-23 | Bayer Ag, 5090 Leverkusen | Acylierte triazolyl-(gamma)-fluorpinakolyl-derivate, verfahren zu ihrer herstellung und ihre verwendung als fungizide |
US4366241A (en) | 1980-08-07 | 1982-12-28 | Syva Company | Concentrating zone method in heterogeneous immunoassays |
US4435504A (en) | 1982-07-15 | 1984-03-06 | Syva Company | Immunochromatographic assay with support having bound "MIP" and second enzyme |
US4650764A (en) | 1983-04-12 | 1987-03-17 | Wisconsin Alumni Research Foundation | Helper cell |
GB8424757D0 (en) | 1984-10-01 | 1984-11-07 | Pasteur Institut | Retroviral vector |
US5206344A (en) | 1985-06-26 | 1993-04-27 | Cetus Oncology Corporation | Interleukin-2 muteins and polymer conjugation thereof |
US4980289A (en) | 1987-04-27 | 1990-12-25 | Wisconsin Alumni Research Foundation | Promoter deficient retroviral vector |
US5124263A (en) | 1989-01-12 | 1992-06-23 | Wisconsin Alumni Research Foundation | Recombination resistant retroviral helper cell and products produced thereby |
GB8901778D0 (en) | 1989-01-27 | 1989-03-15 | Univ Court Of The University O | Manipulatory technique |
US5703055A (en) | 1989-03-21 | 1997-12-30 | Wisconsin Alumni Research Foundation | Generation of antibodies through lipid mediated DNA delivery |
US5925525A (en) | 1989-06-07 | 1999-07-20 | Affymetrix, Inc. | Method of identifying nucleotide differences |
US5399346A (en) | 1989-06-14 | 1995-03-21 | The United States Of America As Represented By The Department Of Health And Human Services | Gene therapy |
US5225212A (en) | 1989-10-20 | 1993-07-06 | Liposome Technology, Inc. | Microreservoir liposome composition and method |
CA2039921A1 (fr) | 1990-04-16 | 1991-10-17 | Xandra O. Breakefield | Transfert et expression de la sequence d'adn dans les cellules du systeme nerveux central a l'aide de mutants du virus de l'herpes, avec deletions chez les genes en vue de repliquer le virus |
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US5994069A (en) | 1996-01-24 | 1999-11-30 | Third Wave Technologies, Inc. | Detection of nucleic acids by multiple sequential invasive cleavages |
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US7582425B2 (en) * | 2001-09-21 | 2009-09-01 | The Regents Of The University Of Michigan | Atlastin |
-
2003
- 2003-02-11 US US10/364,748 patent/US7582425B2/en active Active
-
2004
- 2004-02-11 WO PCT/US2004/004013 patent/WO2004072305A2/fr active Application Filing
-
2009
- 2009-03-27 US US12/412,981 patent/US20090215065A1/en not_active Abandoned
Patent Citations (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2003026566A2 (fr) * | 2001-09-21 | 2003-04-03 | The Regents Of The University Of Michigan | Atlastine |
Non-Patent Citations (7)
Title |
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ALVARADO D M ET AL: "Atlastin gene analysis in early onset hereditary spastic paraplegia", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 69, no. 4 Supplement, October 2001 (2001-10-01), & 51ST ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS; SAN DIEGO, CALIFORNIA, USA; OCTOBER 12-16, 2001, pages 597, XP002290965, ISSN: 0002-9297 * |
DATABASE EMBL 12 February 2002 (2002-02-12), ZHAO ET AL: "Homo sapiens GTPase mRNA complete cds", XP002291302, retrieved from EBI Database accession no. AY032844 * |
MUGLIA M ET AL: "Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia", ANNALS OF NEUROLOGY, BOSTON, US, vol. 51, no. 6, June 2002 (2002-06-01), pages 794 - 795, XP002975283, ISSN: 0364-5134 * |
SAUTER S M ET AL: "Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.", HUMAN MUTATION. JAN 2004, vol. 23, no. 1, January 2004 (2004-01-01), pages 98, XP002291119, ISSN: 1098-1004 * |
TESSA A ET AL: "SPG3A: An additional family carrying a new atlastin mutation.", NEUROLOGY. 24 DEC 2002, vol. 59, no. 12, 24 December 2002 (2002-12-24), pages 2002 - 2005, XP002290978, ISSN: 0028-3878 * |
ZHAO X ET AL: "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia", NATURE GENETICS, NATURE AMERICA, NEW YORK, US, vol. 29, November 2001 (2001-11-01), pages 326 - 328, XP002975282, ISSN: 1061-4036 * |
ZHU PENG-PENG ET AL: "Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.", THE JOURNAL OF BIOLOGICAL CHEMISTRY. 5 DEC 2003, vol. 278, no. 49, 5 December 2003 (2003-12-05), pages 49063 - 49071, XP002291120, ISSN: 0021-9258 * |
Also Published As
Publication number | Publication date |
---|---|
WO2004072305A2 (fr) | 2004-08-26 |
US7582425B2 (en) | 2009-09-01 |
US20090215065A1 (en) | 2009-08-27 |
US20030224968A1 (en) | 2003-12-04 |
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